Submissions for variant NM_021871.4(FGA):c.908G>A (p.Gly303Glu)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003489634	SCV004241584	uncertain significance	not specified	2023-12-21	criteria provided, single submitter	clinical testing	Variant summary: FGA c.908G>A (p.Gly303Glu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 251288 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.908G>A in individuals affected with Dysfibrinogenemia, Congenital and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics	RCV004978892	SCV005588033	uncertain significance	Inborn genetic diseases	2024-11-13	criteria provided, single submitter	clinical testing	The c.908G>A (p.G303E) alteration is located in exon 5 (coding exon 5) of the FGA gene. This alteration results from a G to A substitution at nucleotide position 908, causing the glycine (G) at amino acid position 303 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV005030065	SCV005658150	uncertain significance	Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia	2024-05-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004723339	SCV005336675	uncertain significance	FGA-related disorder	2024-07-24	no assertion criteria provided	clinical testing	The FGA c.908G>A variant is predicted to result in the amino acid substitution p.Gly303Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.